Article

A Novel Homozygous Pathogenic Variant in SCN9A Gene Causing Hereditary Sensory and Autonomic Neuropathy Type ID: A Case Report

2025-09-24

Abstract excerpt

<title>Abstract</title> <p>Hereditary Sensory and Autonomic Neuropathy type ID (HSAN ID), caused by mutations in the SCN9A gene, is an exceptionally rare inherited disorder characterized by a profound absence of pain perception and varying degrees of autonomic dysfunction. We present the case of a female patient, currently in her early school-age years, born to consanguineous parents, who exhibited congenital ins...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 3b59351c-d463-5e7f-b497-09aac49257a9
DOI: 10.21203/rs.3.rs-7180980/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A Novel Homozygous Pathogenic Variant in SCN9A Gene Causing Hereditary Sensory and Autonomic Neuropathy Type ID: A Case ReportDOI 10.21203/rs.3.rs-7180980/v1Read

Clinical and Genetic Characterization of Hereditary Sensory and Autonomic Neuropathy Type IV in a Consanguineous Population: Identification of Novel NTRK1 Variants and Expansion of Phenotypic Spectrum.Semantic proximity Read

Hereditary Sensory and Autonomic Neuropathy: A Case Series of Six Children.Semantic proximity Read

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.Semantic proximity Read

Genetic, electrophysiological, and pathological studies on patients with SCN9A-related pain disorders.Semantic proximity Read

[Congenital insensitivity to pain caused by a novel SCN9A-genotype].Semantic proximity Read

Congenital insensitivity to pain: a novel mutation affecting a U12-type intron causes multiple aberrant splicing of SCN9A.Semantic proximity Read

Carriers of<i>SCN9A</i>variants linked to inherited and acquired pain syndromes show no alteration in the prevalence of pain or analgesic usage in the UK Biobank cohortSemantic proximity Read

Mutations in sodium-channel gene SCN9A cause a spectrum of human genetic pain disordersSemantic proximity Read

A novel mutation in SCN9A in a child with congenital insensitivity to pain.Semantic proximity Read

Expanding the genetic causes of small‐fiber neuropathy: SCN genes and beyondSemantic proximity Read

Severe case and literature review of primary erythromelalgia: Novel SCN9A gene mutationSemantic proximity Read

Yield of peripheral sodium channels gene screening in pure small fibre neuropathySemantic proximity Read